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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Deafness, autosomal recessive 70, 614934, Autosomal recessive; DFNB70 (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (PNPT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Sorbitol and Mannitol, QN, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Sorbitol and Mannitol, QN, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PNPT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
362227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Non-syndromic hearing loss panel. 95-gene NGS panel.

Genologica Medica
Spain
14694
  • C Sequence analysis of the entire coding region

Ciliary dyskinesia and heterotaxia. NGS panel of 40 genes.

Genologica Medica
Spain
4940
  • C Sequence analysis of the entire coding region

Autosomal recessive hearing loss. 41-gene NGS panel.

Genologica Medica
Spain
6541
  • C Sequence analysis of the entire coding region

General panel of metabolic myopathies

Genologica Medica
Spain
114110
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Deafness, autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
7575
  • C Sequence analysis of the entire coding region

Hearing Loss NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
198157
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.